ClinVar Miner

Submissions for variant NM_001005360.2(DNM2):c.700G>C (p.Val234Leu) (rs377159042)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000531704 SCV000640247 uncertain significance Charcot-Marie-Tooth disease, dominant intermediate B 2018-12-20 criteria provided, single submitter clinical testing This sequence change replaces valine with leucine at codon 234 of the DNM2 protein (p.Val234Leu). The valine residue is highly conserved and there is a small physicochemical difference between valine and leucine. This variant is not present in population databases (ExAC no frequency). Family studies have indicated that an individual with complex peripheral neuropathy inherited this variant from an unaffected parent (PMID: 26392352), which suggests that this variant is not likely a primary cause of disease. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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